Incidental Mutation 'IGL00778:Raver2'
ID |
13770 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Raver2
|
Ensembl Gene |
ENSMUSG00000035275 |
Gene Name |
ribonucleoprotein, PTB-binding 2 |
Synonyms |
A430091O22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL00778
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
100926235-101009567 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 100953468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 79
(Q79K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102568
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038463]
[ENSMUST00000106955]
|
AlphaFold |
Q7TPD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038463
AA Change: Q79K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043142 Gene: ENSMUSG00000035275 AA Change: Q79K
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
RRM
|
59 |
125 |
8.2e-11 |
SMART |
RRM
|
132 |
205 |
1.67e-11 |
SMART |
RRM
|
221 |
294 |
2.12e-4 |
SMART |
low complexity region
|
362 |
379 |
N/A |
INTRINSIC |
low complexity region
|
499 |
512 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106955
AA Change: Q79K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102568 Gene: ENSMUSG00000035275 AA Change: Q79K
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
29 |
N/A |
INTRINSIC |
RRM
|
59 |
125 |
8.2e-11 |
SMART |
RRM
|
132 |
205 |
1.67e-11 |
SMART |
RRM
|
221 |
294 |
2.12e-4 |
SMART |
low complexity region
|
362 |
379 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148148
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
Hnrnpr |
T |
A |
4: 136,066,856 (GRCm39) |
D472E |
unknown |
Het |
Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
Other mutations in Raver2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00325:Raver2
|
APN |
4 |
100,960,065 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01363:Raver2
|
APN |
4 |
100,977,780 (GRCm39) |
splice site |
probably benign |
|
IGL02631:Raver2
|
APN |
4 |
100,953,499 (GRCm39) |
missense |
probably damaging |
0.96 |
R0071:Raver2
|
UTSW |
4 |
100,977,642 (GRCm39) |
splice site |
probably benign |
|
R0071:Raver2
|
UTSW |
4 |
100,977,642 (GRCm39) |
splice site |
probably benign |
|
R0792:Raver2
|
UTSW |
4 |
100,960,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R1450:Raver2
|
UTSW |
4 |
100,993,349 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2044:Raver2
|
UTSW |
4 |
100,960,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R5127:Raver2
|
UTSW |
4 |
100,960,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R5162:Raver2
|
UTSW |
4 |
100,959,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:Raver2
|
UTSW |
4 |
100,959,889 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5557:Raver2
|
UTSW |
4 |
100,993,336 (GRCm39) |
missense |
probably benign |
0.04 |
R6190:Raver2
|
UTSW |
4 |
100,990,814 (GRCm39) |
missense |
probably benign |
0.00 |
R6248:Raver2
|
UTSW |
4 |
100,991,320 (GRCm39) |
splice site |
probably null |
|
R6449:Raver2
|
UTSW |
4 |
100,990,869 (GRCm39) |
missense |
probably benign |
0.41 |
R6640:Raver2
|
UTSW |
4 |
100,988,500 (GRCm39) |
missense |
probably damaging |
0.98 |
R6852:Raver2
|
UTSW |
4 |
100,990,787 (GRCm39) |
missense |
probably benign |
0.00 |
R7196:Raver2
|
UTSW |
4 |
100,960,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R7449:Raver2
|
UTSW |
4 |
100,959,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Raver2
|
UTSW |
4 |
100,964,410 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8025:Raver2
|
UTSW |
4 |
100,960,162 (GRCm39) |
nonsense |
probably null |
|
R8843:Raver2
|
UTSW |
4 |
100,994,942 (GRCm39) |
missense |
probably damaging |
0.96 |
R8898:Raver2
|
UTSW |
4 |
100,964,399 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9290:Raver2
|
UTSW |
4 |
100,977,387 (GRCm39) |
intron |
probably benign |
|
RF017:Raver2
|
UTSW |
4 |
100,960,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-12-06 |